Objective: Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center.
Methods: A review of 428 children with microtia was conducted. Patients were identified as syndromic or non-syndromic. Data included echocardiograms performed, anomalies detected, need for cardiology follow-up, and need for surgical intervention.
Results: In the 428 patients with microtia, 77 patients (18%) were syndromic, the most common being Goldenhar (26%). 23.5% (101) of patients overall had documented echocardiograms, with structural anomalies found in 75.9% of patients screened and 18.5% overall, including disorders ranging from minor septal defects to Tetralogy of Fallot. The most common anomalies were left-right shunts in 77.2% of anomalies. Syndromic patients had a greater percentage of echocardiograms performed, cardiac anomalies, and cardiology follow-up compared to non-syndromic microtia patients.
Conclusion: Children with microtia are at significant risk for cardiac abnormalities. Many patients with lesions required treatment and cardiology follow-up. Anomalies may have been missed in those who did not receive an echocardiogram. Given the risk of cardiac anomalies going unnoticed at the time of birth, we recommend a thorough cardiac physical exam for each microtia patient and the consideration of screening echocardiogram in syndromic children born with microtia.
Keywords: Cardiac anomaly; Congenital heart disease; Echocardiogram; Genetic syndrome; Microtia.
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